Variant report

Variant	rs590482
Chromosome Location	chr1:194232252-194232253
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11805849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167312	0.93[EUR][1000 genomes]
rs167313	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs167314	0.93[EUR][1000 genomes]
rs167315	0.93[EUR][1000 genomes]
rs16836467	1.00[EUR][1000 genomes]
rs16836469	1.00[EUR][1000 genomes]
rs16836471	1.00[EUR][1000 genomes]
rs16836509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs215124	1.00[EUR][1000 genomes]
rs2450536	0.93[EUR][1000 genomes]
rs2450539	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450541	0.93[EUR][1000 genomes]
rs2477607	0.93[EUR][1000 genomes]
rs2477612	0.93[EUR][1000 genomes]
rs302210	0.93[EUR][1000 genomes]
rs302211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302212	0.93[EUR][1000 genomes]
rs302213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302214	0.81[EUR][1000 genomes]
rs302216	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302217	0.93[EUR][1000 genomes]
rs302219	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs302220	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302222	0.93[EUR][1000 genomes]
rs302223	0.88[EUR][1000 genomes]
rs302234	0.93[EUR][1000 genomes]
rs302235	0.93[EUR][1000 genomes]
rs302237	0.93[EUR][1000 genomes]
rs302238	0.93[EUR][1000 genomes]
rs302241	1.00[EUR][1000 genomes]
rs302242	1.00[EUR][1000 genomes]
rs302243	0.93[EUR][1000 genomes]
rs302244	0.87[EUR][1000 genomes]
rs302245	1.00[EUR][1000 genomes]
rs302246	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302247	0.93[EUR][1000 genomes]
rs302248	0.93[EUR][1000 genomes]
rs302250	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302251	1.00[EUR][1000 genomes]
rs302252	0.93[EUR][1000 genomes]
rs302255	0.93[EUR][1000 genomes]
rs302259	1.00[EUR][1000 genomes]
rs302260	1.00[EUR][1000 genomes]
rs302261	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302263	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302267	0.93[EUR][1000 genomes]
rs302268	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302269	0.93[EUR][1000 genomes]
rs302280	0.93[EUR][1000 genomes]
rs302281	1.00[EUR][1000 genomes]
rs302282	1.00[EUR][1000 genomes]
rs302283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302284	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41315551	0.93[EUR][1000 genomes]
rs587990	0.93[EUR][1000 genomes]
rs588438	1.00[EUR][1000 genomes]
rs589999	0.93[EUR][1000 genomes]
rs590510	0.93[EUR][1000 genomes]
rs604436	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs604918	0.88[EUR][1000 genomes]
rs611155	1.00[EUR][1000 genomes]
rs619161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620738	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs624059	0.94[EUR][1000 genomes]
rs62641675	0.93[EUR][1000 genomes]
rs642304	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652758	1.00[EUR][1000 genomes]
rs654399	0.93[EUR][1000 genomes]
rs663671	0.93[EUR][1000 genomes]
rs6678341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668528	1.00[EUR][1000 genomes]
rs681933	1.00[EUR][1000 genomes]
rs683253	0.87[EUR][1000 genomes]
rs683752	1.00[EUR][1000 genomes]
rs686596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688868	1.00[EUR][1000 genomes]
rs73070740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070746	0.87[EUR][1000 genomes]
rs73070762	0.88[EUR][1000 genomes]
rs73070763	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1001872	chr1:194030479-194288016	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv832181	chr1:194089117-194255615	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1004338	chr1:194143315-194381135	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv872838	chr1:194206338-194412218	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv872839	chr1:194206338-194420305	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv872840	chr1:194221509-194320639	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv872841	chr1:194221509-194329561	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv872842	chr1:194221509-194334907	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv872843	chr1:194221509-194506982	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv872844	chr1:194232033-194364661	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194232000-194233600	Weak transcription	Primary T cells from cord blood	blood

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